Multidisciplinary Team Dedicated to Suspected Heritable Pulmonary Fibrosis

Genetic testing is proposed for suspected cases of pulmonary fibrosis of genetics origin but clinicians and patients need advice about the related diagnostic and management issues. Because multidisciplinary team (MDT) has been shown to improve accuracy of ILD diagnosis, we evaluated the feasibility of an MDT dedicated to the indication and interpretation of genetic testing. The MDT met monthly, included pneumologists experts in ILD in adults, children, geneticists, radiologist. Hematologists, rheumatologists, dermatologists, hepatologists, and pathologists were also invited to attend. Since 2016, 70 patients (37 males, 33 females) were discussed, from 31 different centers (7 countries). Mean age was 46.4 years [0-71] including 3 patients <15 years, and 3 dead. The CT pattern was assessed in 68 patients: UIP (n=10), possible UIP (n=11), inconsistent with UIP (n=43), no ILD (n=4). At the time of the MDT, rare genetics variants were considered as pathogenic for 43 patients: TERT (n=18), TERC (n=4), RTEL1 (n=1), PARN (n=1), SFTPC (n=8), SFTPA1 (n=2), SFTPA2 (n=2), NKX2-1 (n=3), ABCA3 (n=3), GATA2 (n=1). A familial screening was proposed for those 43 patients. Genetic conclusion was provisional at the time of the MDT (n=27): ongoing analysis (n=13) or whole exome sequencing without known rare genetic variant evidenced (n=4). The MDT therapeutic proposals were: antifibrotic drugs (n=23), best supportive care (n=4), surgical lung biopsy (n=2), steroids (n=7), lung transplantation (n=16), or watch and wait (n=9). Our experience shows that a dedicated MDT with genetic analysis is feasible including patients of all ages and provides a unique opportunity to improve knowledge and to adapt patient management and therapy.